Table 1. Averages for each enzyme activity in normal subjects, cut-off values and results in confirmed cases previously diagnosed.
| MPS-1 | Results (μmol/L/h) |
|---|---|
| Samples (n=9864) | |
| IDUA average | 17.1 |
| calculated IDUA cut-off (30%) | 5.1 |
| Positive samples (n=3) | |
| Patient 1 | 3.4 |
| Patient 2 | 4.9 |
| Patient 3 | 3.7 |
| FABRY | Results (μmol/L/h) |
| Samples (n=9988) | |
| GLA average | 18.9 |
| calculated GLA cut-off (30%) | 5.7 |
| Positive samples (n=2) | |
| Patient 1 | 4.2 |
| Patient 2 | 4.7 |
| Patient 3 | 3.6 |
| POMPE | Results (μmol/L/h) |
| Samples (n=9560) | |
| GAA average | 19.8 |
| calculated GAA cut-off (30%) | 5.9 |
| Positive samples (n=2) | |
| Patient 1 | 3.4 |
| Patient 2 | 3.1 |
| GAUCHER | Results (μmol/L/h) |
| Samples (n=9878) | |
| GBA average | 13 |
| calculated GBA cut-off (30%) | 3.9 |
| Positive samples (n-2) | |
| Patient 1 | 3.3 |
| Patient 2 | 3.5 |